The Kohs' blocks test as an important instrument to investigate the visuo-spatial impairments in myotonic dystrophy. Part I. Quantitative and qualitative analysis.

This study presents the performance of 39 cases of myotonic dystrophy on Kohs' blocks test (21 females and 18 males, age range from 9 to 70 years). On this test, the patients have to reproduce figures from models previously showed to them. Some of the patients had some kind of professional activity, while others had never exerted a professional occupation. The patients denoted considerable difficulty to perform the test. Some cases constructed entirely different figures in comparison to the presented drawings, translating visuo-spatial and constructional disabilities. The performance was insufficient in 71.4% of the cases. These cases solved less than 50% of the test. The levels of analysis and synthesis were severely impaired. A total of 18 cases got less than 10 points, not reaching 20% of the test. The results showed the sensitivity of this test in detecting visuo-spatial impairment in myotonic dystrophy.

Evaluation of two infants with myotonic dystrophy by the McFie's diagram from the results of WISC.

In this paper the authors disclose the result of a research carried out on two brothers whose parents were first cousins, being the gene transmitted by the father. The psychological test Wechsler Intelligence Scale of Children (WISC) was used in two occasions in order to assess the verbal and non-verbal skills. FRM and IRM were nine and eleven-year-old respectively, in the first examination, being the former thirteen and the latter fifteen-year-old on the second one. A comparison between the McFie's diagram and the WISC scores was made: the McFie's diagram showed the impairment severity in each cortical lobe when the left hemisphere was compared with the right one. The McFie's diagram was made from WISC's scores: the McFie's diagram showed the impairment severity in each cortical lobe when the left hemisphere was compared with the right one. On the second examination the performance was worse than in the first, mainly in the non-verbal aspects. The IRM's diagram showed a reduction in the right frontal and parietal lobes. In the FRM's diagram a reduction in the left frontal, temporal and parietal lobes, and also, in the right parietal lobe was found. The visual-spatial constructive aspects showed greatest impairment in this result.

[Longitudinal psychological study in myotonic dystrophy]. / Estudo psicológico longitudinal na distrofia miotônica.

The authors studied in two occasions a group of 12 patients with myotonic dystrophy in a mean interval of three years and a half between the examinations. The neuro-psychological battery included the following tests: Raven's progressive matrices (coloured and general scales), Wechsler children intelligence scale (WISC), Kohs' blocks and Piaget-Head. 50% of the patients had better scores on the second examination on RCPM, 81.89% on WISC-digit span, 63.67% on WISC-numbers, 44.44% on Piaget-Head 2 and 60% on Kohs' blocks. However, on Piaget-Head 1-3, the majority had worse results (87.56%) with statistical significative difference (p < 0.05). Though the scores from Kohs' blocks were better in 60% of the patients with p < 0.05, we have to consider that 60% had 0 point on first examination being their scores a little better on second one. This is enough to result on statistical significative difference, however, very low if compared to normal subjects.

Progressive muscular dystrophy--Duchenne type. Controversies of the kinesitherapy treatment.

The authors carried out a study of children with progressive muscular dystrophy of Duchenne type (DMD), giving special attention to physiatrical follow-up, having in mind that the practice of exercises has been debated very much in the specialized literature. The goal of this study is to try to settle the limits for the utilization of kinesitherapy which should be applied only in specific situations, such as: after skeletal muscular trauma or when the respiratory system is at risk. In this situation the physiatrical procedure would be to restrict physical activity, with early use of wheelchairs and the exclusion of the use of orthoses for orthostatism. DMD, at present, has been considered a result of duplication (60%), deletion (5 to 6%) or point mutations at gen Xp21 (Zatz, 1994), that codifies a protein called Dystrophin (Hoffman et al., 1987). Dystrophin is a cytoskeletal sarcolemmic protein that constitutes about .002% of the total protein of the muscle, present in skeletal fibers concentrated in muscle tendinous joints, which supplies mechanical reinforcement to the surface of the membrane during stretching and shortening physical activity. This protein is absent in DMD cases, wherefore, the sarcolemma undergoes a segmentary necrosis losing its contractile property during eccentric and concentric physical activity. The importance of physiatrical follow-up for DMD patients is to avoid deformities and tendon shortening, to ameliorate the patient's quality of life, to provide respiratory assistance and general counseling to members of the patient's family. The objective of this study is to try to clarify the risks and possibilities of kinesitherapy applied to DMD cases.

[Orofacial evaluation with a punctuation scale in patients with myotonic dystrophy (Steinert's disease)]. / Avaliação orofacial através de uma escala de pontuação em pacientes com distrofia miotônica. (Doença de Steinert).

Orofacial examination was applied in 39 patients with myotonic dystrophy. We made an original table with a scale of punctuation. The group showed a deficit of 43.70%. The female group was 6.16% better than male's. The maternal inherited cases were 3.63% better than the paternal ones. When we separated the groups by decades, there was a tendency to an increasingly better performance as the age of the beggining of symptoms was later. The performance was 10.68% better in the group of patients with 1 to 10 years than in the group with 11 to 20 years of disease. We concluded that the phonoaudiological affection in myotonic dystrophy was less intense in patients with later onset of symptoms and less than 10 years of disease.

[Myometric evaluation of patients with Duchenne muscular dystrophy]. / Avaliação miométrica de pacientes com distrofia muscular de Duchenne.

An account of the authors' experience in strength measurement using a hand-held dynamometer in 16 patients with Duchenne muscular dystrophy (DMD) is given. A rapid decrease of knee extension strength was observed, between 6 and 8 years of age, analysing among patients of different ages. At the same time loss of the ability to walk has occurred. An unexplainable increase in strength was observed in two patients examined in a six month interval. A short review of the literature is given and the conclusion of the importance on the wider use of the instrument.

The heart in myotonic dystrophy

Steinert's disease (myotonic dystrophy) is a hereditary degeneration transmitted as an autosomal dominant trait recognized by clinical history, physical examination, electromyography and muscle biopsy. In a prospective study of Steinert's disease, thirty-one patients underwent physical examination, standard ECG, exercise ECG, Holter electrocardiography, chest X-ray, M-mode and two-dimensional echocardiography, phonocardiography and radionuclide angiocardiography with the intent to study the involvement of cardiac muscle. Owing to the frequent complaint of dyspnea (l4 patients - 45.16 per cent) and the evidence of peripheral cyanosis (8 patients - 25.80 per cent), spirometry was carried out in order to evaluate the cardiorespiratory involvement. Twenty-one patients (67.7 per cent) presented symptoms and 30 patients (96.71 per cent) clinical signs at the examination. Standard ECG disclosed 27 patients (90 per cent) with some abnormality. Conduction defects were shown in 14 patients (46.66 per cent), arrhythmias in 9 cases (30 per cent) and low voltage of the P wave in 8 cases (26.66 per cent). Conduction defects not disclosed by standard ECG were shown by Holter electrocardiographic recordings. Echocardiography disclosed a high incidence of mitral valve prolapse (39.13 per cent). Phonocardiographic systolic time intervals were abnormal in all patients, even through with normal PEP/LVET ratio. Ejection fraction and segmental contractility were normal as measured at rest by radionuclide angiocardiography in 20 cases (64.51 per cent). Fourteen patients were subjected to spirometry. This study showed 9 patients (64.28 per cent) with respiratory disturbances. The major ventilatory dysfunction was the restrictive component, present in 7 cases (77.77 per cent). These data suggest respiratory involvement in myotonic dystrophy.

Associacao de epitelioma de Malherbe com distrofia miotonica - nota previa / Association of Malherbe's epithelioma and myotonic dystrophy - preliminary report

Os autores demonstraron a presenca de tumores (epitelioma de Malherbe) associados a doenca de Steinert, em uma mulher branca de 34 anos de idade. Estudaram o caso de ponto de vista histopatologico, constatando a semelhanca com as descricoes de outros autores

Avaliacao clinico-eletrencefalografica em pacientes com crises epilepticas relacionadas a alimentacao. Estudo de oito casos. / Clinical electroencephalographic evaluation in patients with epileptic crisis related to eating study of 8 cases

Os autores descrevem oito casos de pacientes com crises epilepticas relacionadas a ingestao de alimentos.Sao descritas as caracteristicas das crises, frequencia e resultados terapeuticos, bem como a avaliacao eletroencefalografica

Epilepsia relacionada a alimentacao e associada a astrocitoma cerebral. / Epilepsy related to eating and associated with cerebral astrocytoma

Estudou-se o caso de um paciente com crises epilepticas relacionadas a ingestao de alimentos, cujos exames complementares mostraram a presenca de massa tumoral frontoparietal direita, identificada histologicamente como astrocitoma protoplasmatico microcistico, que se infiltrava ate a cissura silviana

Comprometimento neurologico na esquistossomose mansonica. / Neurological involvement in schistosomiasis mansoni

Os autores chamam atencao para o problema do comprometimento neurologico da esquistossomose mansonica em nosso meio, com areas endemicas, onde milhoes de individuos sao acometidos por esta parasitose. Assinalam a subestimacao destas complicacoes que sao pouco diagnosticadas, apesar das multiplas manifestacoes medulares e encefalicas que surgem nestes casos, embora as lesoes medulares sejam bem mais frequentes e mais sugestivas. Ressaltam a importancia do diagnostico etiologico diante da existencia de possibilidades terapeuticas satisfatorias

[Progressive extrinsic ophthalmoplegia. Report of 3 cases]. / Oftalmoplegia extrínseca progressiva. Registro de tres casos.

Three women with extrinsic oculo-muscular distrophy were studied. In two patients the symptoms were began at 25 and another one at 56 year-old. Non myogenic features were observed: in case one there was familial otosclerosis. This patient had impossibility to beget children. Her first menstruation was observed at 19 and the last at 40 year-old, like to case 2, which was the only to have electrocardiographic alterations. Romberg's signal and profound hyporeflexia was obtained in case 3, whose family had a lot of member with cataract. Biopsy of the non ocular muscles was made too, in spite of patient's symptoms had been concerning to ocular muscles only. All of non ocular muscles had myogenic features. In electromyogram examination of non ocular muscles the myogenic features were observed too. Therefore, we believe in diffuse myogenic process in spite of ocular manifestation had been the only patient's complaints.

[Progressive hemifacial atrophy (Parry-Romberg disease): study of a case]. / Atrofia hemifacial progressiva (doença de Parry-Romberg): estudo de um caso.

A caracteristic case of hemifacial progressive atrophy at right is reported. The patient was a man with 45 year-old. There were epileptic crisis at left too. Alterations observed in clinical-neurological examination are referred. In computadorized tomographic axial examination there were parietotemporal atrophy at left and frontal contrast hipercaptation at right. In EEG there were lentification at right and depression at left who was in concordance with the pathological alterations of the patient: atrophy and cortical depression at left with facial atrophy at right and lentification and contrast hipercaptation at right with epileptic crisis at left. EMG showed facial velocity conduction slowed at right. The authors believe in atrophy hemifacial progressive has been a disease which injuries central and peripheral nervous system at one time.

Atrofia hemifacial progressiva (doenca de Parry-Romberg): estudo de um caso. / Progressive hemifacial atrophy (Parry-Romberg disease): study of a case

E apresentado um exemplar de atrofia hemifacial progressiva com acometimento caracteristico da hemiface direita. Concomitantemente, havia crises epilepticas dimidiadas a esquerda. O EEG mostrou depressao do ritmo a esquerda e lentificacao a direita. Na TC havia atrofia a esquerda e hipercaptacao frontal direita do contraste. O EMG mostrou lentificacao na conducao nervosa facial a direita.Comentarios sao feitos sobre os achados acima, bem como uma revisao da literatura

Oftalmoplegia extrinseca progressiva.Registro de tres casos. / Progressive extrinsic ophthalmoplegia: report of 3 cases

Sao relatados 3 casos de pacientes femininos com atrofia dos musculos oculares extrinsecos, sendo 2 de inicio provavel aos 25 anos e 1 aos 56 anos. No que se referem as intercorrencias nao miogenicas, no caso 1 havia otosclerose, comum na familia e incapacidade para engravidar. A menarca ocorreu aos 19 anos e a menopausa aos 40, o que igualmente ocorreu com o caso 2, este o unico a mostrar alteracoes eletrocardiograficas. No caso 3 havia sinal de Romberg e hiporreflexia profunda, sendo comum a incidencia de catarata congenita. Com relacao a patologia muscular, apesar das queixas serem praticamente restritas aos musculos extrinsecos oculares, procedemos a biopsia de outros musculos,alem dos oculares, evidenciando-se em todos acometimento do tipo miogenico, o mesmo ocorrendo na EMG. Acreditamos tratar-se de processo miogenico difuso, em que pese a dominancia das manifestacoes oculares

[Epileptic crisis induced by food intake: report of a case]. / Crises epilépticas evocadas pela ingestão de alimentos: registro de um caso.

The case of one 23 year-old girl who had epileptic manifestations is reported. At first, generalized tonic seizures; afterwards, epileptic seizures precipitated by eating. The electroencephalograms showed left temporal lobe dysfunctions. Different types of drugs were used with no success. The best results were obtained by association of sodium valproate, clonazepam and phenobarbital. Comments are made about clinic and etiopathogenesis, believing the authors in the hypothesis of nervous structures chronic hyperactivity. To Walker the hyperactivity was reached by hormones production under neural control of specific cerebral centers. The continuous bombardment of epileptic discharges to hypothalamic centers is the probably responsible by epileptic seizures precipitated by eating.

[Virologic studies in patients with amyotrophic lateral sclerosis]. / Estudos virológicos em pacientes com esclerose lateral amiotrófica.

The effects of intracerebral inoculation of cerebrospinal fluid in mice from 9 patients with amyotrophic lateral sclerosis are reported. There were 704 animals inoculated. The results were considered positive when the animals presented difficulties in walking and equilibrating. Cases 1, 2, 6, 7 and 9 were positives in the first passage. In case 1, the positivity was reached from first to fourth passage and in case 6, to third passage. At sight of this results, the possibility of that disease to be caused by slow-virus is discussed.

Estudos virologicos em pacientes com esclerose lateral amiotrofica. / Virologic studies in patients with amyotrophic lateral sclerosis

Sao estudados os efeitos da enoculacao de liquido cefalorraqueano de pacientes com ELA em camundongos recen-natos (via intracerebral).Os autores discutem os resultados encontrados bem como a hipotese da ELA ser de natureza infecciosa (doenca causada por viros de acao lenta)

Crises epilepticas evocadas pela ingestao de alimentos: registro de um caso. / Epileptic crisis evoked by food intake: report of a case

E relatado o caso de uma jovem de 23 anos que apresentava manifestacoes epilepticas; inicialmente, crises tonicas, generalizadas e, a seguir, ataques evocados pela ingestao de alimentos. Nos EEG destacam-se os sinais de disfuncao do lobo temporal esquerdo. Os esquemas terapeuticos nao obtiveram sucesso.Ate a presente data, o que tem melhorado as crises e a associacao de valproato de sodio, clonazepan e fenobarbital. Alguns comentarios sao feitos a clinica da doenca e no concernente a etiopatogenia. Os autores acreditam na hipotese de hiperatividade cronica de certas estruturas nervosas. Segundo Walker tal hiperatividade e alcancada pela producao de hormonios que estao sob o controle neural de centros cerebrais especificos. O bombardeio reiterado da descarga epileptica sobre os centros hipotalamicos, talvez, seja o responsavel pela epilepsia evocada no ato da alimentacao